贝赫切特病是一种系统性血管炎，常伴有眼内炎症。最近的研究发现贝赫切特病存在独立的临床簇，每个簇都涉及不同的受影响器官组合。眼部贝赫切特病主要表现为葡萄膜炎，被认为是一个独立的簇，与肠道、心血管或中枢神经系统等其他系统受累的可能性较低。一种主流理论认为，该病的发病机制是多因素的，多种遗传和感染因素可能相互作用导致疾病的发生。在散发病例中，人类白细胞抗原（HLA）基因，包括HLA-B51、HLA-A26、HLA-B15和HLA-B5701，被发现是决定遗传易感性的关键组分。在HLA区域之外，一组与白细胞介素（IL）-23/IL-17通路、肿瘤坏死因子（TNF）信号和模式识别受体系统密切相关的易感性变异体已被鉴定。微生物感染，如链球菌、结核分枝杆菌和单纯疱疹病毒（HSV），与在免疫遗传易感个体中的疾病发作有关。临床上，由于眼部贝赫切特病的显著复发-缓解过程，防止复发袭击是主要的治疗目标。皮质类固醇和免疫调节药物的联合，如抗TNF药物、干扰素和常规免疫抑制剂（如环孢素、硫唑嘌呤），一直是该病的主要方案。未来的研究可以比较免疫调节药物的有效性，并根据对疾病的分子异质性的了解来确定最适合特定药物治疗的亚组。版权所有 © 2023. Elsevier Ltd. 发布

Behçet's disease is a systemic vasculitis frequently associated with intraocular inflammation. Recent findings identified independent clinical clusters in Behçet's disease, each involving distinct combinations of affected organs. Ocular Behçet's disease, mainly manifested as uveitis, is characterized as an independent cluster with a low likelihood of association with other system involvements, such as intestinal, cardiovascular, or central nervous system. A prevailing theory suggests that the pathogenesis of the disease is multifactorial, where a variety of genetic and infectious agents may interact with each other to cause the disease. Among sporadic cases, the human leukocyte antigen (HLA) genes, including HLA-B51, HLA-A26, HLA-B15, and HLA-B5701, have been found to be a key component conferring genetic susceptibility. Outside the HLA region, a set of susceptibility variants are identified, closely related to interleukin (IL)-23/IL-17 pathway, tumor necrosis factor (TNF) signaling, and pattern recognition receptor systems. Microbial infections, such as Streptococcus sanguinis, Mycobacterium tuberculosis, and Herpes simplex virus (HSV), are linked to play the triggering of disease in immunogenetically predisposed individuals. Clinically, due to the notable relapsing-remitting course of ocular Behçet's disease, the prevention of recurrent attack would be the primary treatment goal. Combination of corticosteroids and immunomodulatory drugs, such as anti-TNF agents, interferon, and conventional immunosuppressants (e.g. cyclosporine, azathioprine), have been the mainstream regimen for the disease. Future research may focus on comparing the effectiveness of immunomodulatory drugs and identifying the most suitable subgroups for a specific drug on the basis of the knowledge of the molecular heterogeneity of the disease.Copyright © 2023. Published by Elsevier Ltd.